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Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

Clinical Microbiology Reviews, 2011-07, Vol.24 (3), p.490-497

2011

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The nature of human IL-6

The Journal of experimental medicine, 2019-09, Vol.216 (9), p.1969-1971

2019

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SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4

The Journal of experimental medicine, 2021-04, Vol.218 (4)

2021

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Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

Journal of allergy and clinical immunology, 2015-11, Vol.136 (5), p.1139-1149

2015

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The human gene damage index as a gene-level approach to prioritizing exome variants

Proceedings of the National Academy of Sciences - PNAS, 2015-11, Vol.112 (44), p.13615-13620

2015

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Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Proceedings of the National Academy of Sciences - PNAS, 2021-01, Vol.118 (3), p.1

2021

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Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria

The Journal of experimental medicine, 2017-07, Vol.214 (7), p.1991-2003

2017

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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

The Journal of clinical investigation, 2019-02, Vol.129 (2), p.583-597

2019

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No increased prevalence of autoantibodies neutralizing type I IFNs in idiopathic pulmonary fibrosis patients

Respiratory research, 2023-03, Vol.24 (1), p.87-87, Article 87

2023

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Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

Science (American Association for the Advancement of Science), 2006-10, Vol.314 (5797), p.308-312

2006

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Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association

Frontiers in immunology, 2021-12, Vol.12, p.760019

2021

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Severe Dermatophytosis and Acquired or Innate Immunodeficiency: A Review

Journal of fungi (Basel), 2015-12, Vol.2 (1), p.4

2015

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Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses

Frontiers in immunology, 2020-01, Vol.11, p.38-38

2020

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Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome

Frontiers in immunology, 2021-06, Vol.12, p.696350

2021

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Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants

Journal of allergy and clinical immunology, 2017-07, Vol.140 (1), p.232-241

2017

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Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome

BMC surgery, 2023-09, Vol.23 (1), p.1-289, Article 289

2023

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Case Report: Invasive Cryptococcosis in French Guiana: Immune and Genetic Investigation in Six Non-HIV Patients

Frontiers in immunology, 2022-04, Vol.13, p.881352

2022

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Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

Cell genomics, 2023-02, Vol.3 (2), p.100248-100248, Article 100248

2023

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Chronic mucocutaneous candidiasis with severe oral injury associated with a STAT 1 gain-of-function mutation

Advances in oral and maxillofacial surgery, 2022-04, Vol.6, p.100272, Article 100272

2022

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Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Scientific reports, 2018-11, Vol.8 (1), p.16719-10, Article 16719

2018

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NEMO is a key component of NF-κB– and IRF-3–dependent TLR3-mediated immunity to herpes simplex virus

Journal of allergy and clinical immunology, 2011-09, Vol.128 (3), p.610-617.e4

2011

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A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

PloS one, 2012-01, Vol.7 (1), p.e29708

2012

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Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

The nature of human IL-6

SARS-CoV-2 induces human plasmacytoid predendritic cell diversification via UNC93B and IRAK4

Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

The human gene damage index as a gene-level approach to prioritizing exome variants

Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Self-reactive VH4-34-expressing IgG B cells recognize commensal bacteria

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

Genetic inhibition of CARD9 accelerates the development of atherosclerosis in mice through CD36 dependent-defective autophagy

No increased prevalence of autoantibodies neutralizing type I IFNs in idiopathic pulmonary fibrosis patients

Herpes Simplex Virus Encephalitis in Human UNC-93B Deficiency

Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association

Severe Dermatophytosis and Acquired or Innate Immunodeficiency: A Review

Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses

Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants

Interventional pulmonary procedures and their outcomes in patients with STAT3 hyper IgE syndrome

Case Report: Invasive Cryptococcosis in French Guiana: Immune and Genetic Investigation in Six Non-HIV Patients

A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation

Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

Chronic mucocutaneous candidiasis with severe oral injury associated with a STAT 1 gain-of-function mutation

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

NEMO is a key component of NF-κB– and IRF-3–dependent TLR3-mediated immunity to herpes simplex virus

A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant

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